Canonical Allele Identifier: CA10465450

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85911253A>T , CM000685.2:g.85911253A>T	GRCh38
NC_000023.10:g.85166258A>T , CM000685.1:g.85166258A>T	GRCh37
NC_000023.9:g.85052914A>T	NCBI36
NG_009874.2:g.141310T>A , LRG_699:g.141310T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.1244+8T>A MANE Select	NP_000381.1:n.1244+8T>A
ENST00000357749.7:c.1244+8T>A MANE Select	ENSP00000350386.2:n.1244+8T>A
NM_000390.2:c.1244+8T>A , LRG_699t1:c.1244+8T>A	NP_000381.1:n.1244+8T>A
NM_000390.3:c.1244+8T>A	NP_000381.1:n.1244+8T>A
NM_001320959.1:c.800+8T>A	NP_001307888.1:n.800+8T>A
NM_001362517.1:c.800+8T>A	NP_001349446.1:n.800+8T>A
NM_001362518.1:c.800+8T>A	NP_001349447.1:n.800+8T>A
NM_001362518.2:c.800+8T>A	NP_001349447.1:n.800+8T>A
NM_001362519.1:c.800+8T>A	NP_001349448.1:n.800+8T>A
ENST00000357749.6:c.1244+8T>A	ENSP00000350386.2:n.1244+8T>A
ENST00000467744.2:n.127-48159T>A
XM_006724615.2:c.1181+8T>A	XP_006724678.1:n.1181+8T>A
XM_011530839.1:c.800+8T>A	XP_011529141.1:n.800+8T>A
XM_017029242.2:c.1244+8T>A	XP_016884731.1:n.1244+8T>A
XM_017029246.1:c.800+8T>A	XP_016884735.1:n.800+8T>A
XM_024452331.1:c.800+8T>A	XP_024308099.1:n.800+8T>A